Canonical Allele Identifier: CA1667372182
Gene: CITED2 HGNC NCBI

Linked Data

dbSNP Id: rs1778283515
gnomAD v3: 6-139373048-GAT-G
gnomAD v4: 6-139373048-GAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373050_139373051del , CM000668.2:g.139373050_139373051del GRCh38
NC_000006.11:g.139694187_139694188del , CM000668.1:g.139694187_139694188del GRCh37
NC_000006.10:g.139735880_139735881del NCBI36
NG_016169.1:g.6599_6600del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*82_*83del MANE Select ENSP00000356623.2:n.*82_*83del
ENST00000367651.3:c.*82_*83del ENSP00000356623.2:n.*82_*83del
ENST00000536159.2:c.*82_*83del ENSP00000442831.1:n.*82_*83del
ENST00000537332.2:c.*82_*83del ENSP00000444198.2:n.*82_*83del
NM_001168388.2:c.*82_*83del NP_001161860.1:n.*82_*83del
NM_001168389.2:c.*82_*83del NP_001161861.2:n.*82_*83del
NM_006079.4:c.*82_*83del NP_006070.2:n.*82_*83del
NM_006079.5:c.*82_*83del MANE Select NP_006070.2:n.*82_*83del
NM_001168388.3:c.*82_*83del NP_001161860.1:n.*82_*83del
NM_001168389.3:c.*82_*83del NP_001161861.2:n.*82_*83del
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Search 100 bp 3'